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Variant : CV227050 (NM_002336.2(LRP6):c.3398-2A>C) Homo sapiens

Symbol: CV227050
Name: NM_002336.2(LRP6):c.3398-2A>C
Condition: Tooth agenesis [RCV000210803]
Clinical Significance: pathogenic
Last Evaluated: 03/10/2016
Review Status: criteria provided, single submitter
Related Genes: LRP6  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: research
HGVS Name(s): NM_002336.2:c.3398-2A>C
NG_016168.1:g.133342A>C
NC_000012.12:g.12138536T>G
NC_000012.11:g.12291470T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381212,138,536 - 12,138,536CLINVAR
GRCh371212,291,470 - 12,291,470CLINVAR
Cytogenetic Map1212p13.2CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11075175
Created: 2016-05-10
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.